|
1
|
(HPO:0000280)
|
Coarse facial features |
Frequent [Orphanet]
|
|
|
|
189 / 7739
|
|
2
|
(HPO:0000684)
|
Delayed eruption of teeth |
Frequent [Orphanet]
|
|
|
|
117 / 7739
|
|
3
|
(HPO:0000664)
|
Synophrys |
Occasional [Orphanet]
|
|
|
|
112 / 7739
|
|
4
|
(HPO:0000998)
|
Hypertrichosis |
|
|
|
|
52 / 7739
|
|
5
|
(HPO:0001007)
|
Hirsutism |
|
|
|
|
91 / 7739
|
|
6
|
(HPO:0000574)
|
Thick eyebrow |
Occasional [Orphanet]
|
|
|
|
96 / 7739
|
|
7
|
(HPO:0000169)
|
Gingival fibromatosis |
|
|
|
|
14 / 7739
|
|
8
|
(HPO:0001250)
|
Seizures |
Occasional [Orphanet]
|
|
|
|
1245 / 7739
|
|
9
|
(HPO:0002066)
|
Gait ataxia |
Occasional [Orphanet]
|
|
|
|
327 / 7739
|
|
10
|
(HPO:0002353)
|
EEG abnormality |
Frequent [Orphanet]
|
|
|
|
188 / 7739
|
|
11
|
(HPO:0000168)
|
Abnormality of the gingiva |
Very frequent [Orphanet]
|
|
|
|
51 / 7739
|
|
12
|
(HPO:0011362)
|
Abnormal hair quantity |
Very frequent [Orphanet]
|
|
|
|
92 / 7739
|
|
13
|
(HPO:0012758)
|
Neurodevelopmental delay |
Occasional [Orphanet]
|
|
|
|
949 / 7739
|
|
14
|
(HPO:0100037)
|
Abnormality of the scalp hair |
Very frequent [Orphanet]
|
|
|
|
6 / 7739
|
|
15
|
(HPO:0000164)
|
Abnormality of the teeth |
Frequent [Orphanet]
|
|
|
|
291 / 7739
|
|
16
|
(HPO:0100649)
|
Neoplasm of the oral cavity |
Frequent [Orphanet]
|
|
|
|
20 / 7739
|
|
17
|
(HPO:0000006)
|
Autosomal dominant inheritance |
|
|
|
|
2518 / 7739
|
|
18
|
(HPO:0000286)
|
Epicanthus |
rare [HPO:skoehler]
|
|
|
|
371 / 7739
|
|
19
|
(HPO:0000414)
|
Bulbous nose |
rare [HPO:skoehler]
|
|
|
|
63 / 7739
|
|
20
|
(HPO:0000494)
|
Downslanted palpebral fissures |
rare [HPO:skoehler]
|
|
|
|
328 / 7739
|
|
21
|
(HPO:0004540)
|
Congenital, generalized hypertrichosis |
|
|
|
|
11 / 7739
|
|
22
|
(HPO:0009928)
|
Thick nasal alae |
rare [HPO:skoehler]
|
|
|
|
21 / 7739
|